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HelpTest ID DRPL Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis
Useful For
Molecular confirmation of a diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients
Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
DRPLA Gene AnalysisSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of draw.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Ambient (preferred) | |
| Frozen | ||
| Refrigerated | ||
Reference Values
Normal alleles: 7-35 CAG repeats
Abnormal alleles: 49-93 CAG repeats
An interpretive report will be provided.
Day(s) and Time(s) Performed
Tuesday; 2 p.m.
Performing Laboratory
Mayo Medical Laboratories in Rochester
CPT Code Information
81401-ATN1 (atrophin 1) (eg, denatorubral-pallidoluysian atrophy), evaluation to detect abnormal (eg, expanded) alleles
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| DRPL | DRPLA Gene Analysis | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 53234 | Result Summary | 50397-9 |
| 53235 | Result | In Process |
| 53236 | Interpretation | 69047-9 |
| 53237 | Specimen | 31208-2 |
| 53238 | Source | 31208-2 |
| 53239 | Released By | 18771-6 |
Special Instructions
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Forms
1. Molecular Genetics: Neurology Patient Information in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/neurology-request-form.pdf)